SCN1A Polymorphisms and Haplotypes Are Associated With Valproic Acid Treatment Outcomes in Chinese Children With Epilepsy

Zhu, Juan-Li; Lu, Jieluan; Shen, Xianhuan; He, Yinglong; Xia, Han-Bing; Li, Wenzhou; Guo, Huijuan; Zhang, Jianping; Fan, Xiaomei

doi:10.1016/j.pediatrneurol.2023.06.010

Cited by 1 publication

(1 citation statement)

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“…Individuals, however, exhibit substantial variability in their response to VPA, with pharmacogenetics playing a pivotal role in explaining this variation. Consistent with recent research [ 13 ], the TT genotype of rs2298771 may serve as a protective factor in the treatment of childhood epilepsy with VPA. Our study found a significant association between SCN1A rs2298771 T > C and drug response in both VPA monotherapy and VPA polypharmacy.…”

Section: Discussionsupporting

confidence: 88%

Effect of SCN1Aand SCN2A gene polymorphisms on the efficacy of valproic acid treatment in Chinese children with epilepsy

Bao,

Li,

et al. 2024

PLoS ONE

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Objective Epilepsy patients exhibit considerable differences in their response to sodium valproate (VPA) therapy, a phenomenon that might be attributed to individual genetic variances. The role of genetic variations, specifically in sodium channels encoded by SCN1A and SCN2A genes, in influencing the effectiveness of VPA in treating epilepsy is still debated. This research focuses on examining the impact of these genetic polymorphisms on the efficacy of VPA therapy among pediatric epilepsy patients in China. Methods Five single nucleotide polymorphisms (SNPs), including SCN1A (rs10188577, rs2298771, rs3812718) and SCN2A (rs2304016, rs17183814), were genotyped in 233 epilepsy patients undergoing VPA therapy. The associations between genotypes and the antiepileptic effects of VPA were assessed, with 128 patients categorized as VPA responders and 105 as VPA non-responders. Results In the context of VPA monotherapy, SCN1A rs2298771 and SCN2A rs17183814 were found to be significantly associated with VPA response (P< 0.05). Conclusion Our study suggests the findings of this investigation indicate that the polymorphisms SCN1A rs2298771 and SCN2A rs17183814 could potentially act as predictive biomarkers for the responsiveness to VPA among Chinese epilepsy patients.

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Section: Discussionsupporting

confidence: 88%